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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
Symptoms for the condition include. [1] Abnormal electroretinogram; Acrokeratosis; Anhidrotic ectodermal dysplasia; Choroideremia; Heat intolerance; High myopia; Horizontal nystagmus; Intellectual disability; Recurrent respiratory infections; Recurrent skin infections; Scapular winging; Unfavorable response of muscle weakness to acetylcholine ...
Recently, central serous chorioretinopathy has been understood to be part of the pachychoroid spectrum. [5] [6] In pachychoroid spectrum disorders, of which CSR represents stage II, the choroid, the highly vascularized layer below the retina, is thickened and congested with increased blood vessel diameter, especially in the deep choroid (the so-called Haller's layer).
Ahead, you’ll find pictures of common skin rashes, plus symptoms to look out for. It’s important to note that rashes can look different depending on your skin tone. Some conditions might not ...
A North Carolina father is facing criminal charges after authorities allege he left his child isolated in a room with a space heater for more than 12 hours, leading to his death.
The condition, which occurs due to a portion of the skull being misshapen or too small, can cause symptoms like headaches, dizziness and vertigo, weak muscles, difficulty with balance or ...
Many cases are asymptomatic, however patients many have decreased vision, glare, monocular diplopia or polyopia, and noticeable iris changes. [2] [5] On exam patients have normal to decreased visual acuity, and a "beaten metal appearance" of the corneal endothelium, corneal edema, increased intraocular pressure, peripheral anterior synechiae, and iris changes.